Genetic examinations list
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Haemochromatosis – H63D, S65C, C282Y mutation in the HFE gene
HFE gene testing by real-time PCR is performed to detect the most common p.C282Y, p.H63D and p.S65C mutations associated with hereditary haemochromatosis.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysAlpha-1-antitrypsin deficiency – PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles in the SERPINA1 gene
SERPINA1 gene testing using Sanger sequencing is performed to detect PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysQF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y
Testing for aneuploidy of chromosomes 13, 18, 21, X and Y by QF-PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
1 weekSTATIM
2 daysHereditary Fructose Intolerance
The test uses a certified (CE-IVD) reverse hybridization strip method to examine the most common mutations—A149P, A174D, N334K, and the del4E4 deletion—in the ALDOB gene, which are responsible for fructose intolerance.
Material:
Peripheral blood, Isolated DNA from blood …Turnover Time:
4 weeksGERT: GENNET Endometrium Receptivity test
The Gennet Endometrium Receptivity Test (GERT) is a diagnostic test designed to determine the receptivity of the inner lining of the uterus (endometrium). The test requires a biopsy sample of endometrial tissue and uses RNAseq analysis.
Material:
Endometrial biopsyTurnover Time:
4 weeksSTATIM
2 weeksDNA isolation and banking
DNA isolation and its storage in the laboratory (banking).